Abstract

My experimental activity has been focused to the analysis of gene expression profiles in a group of Familial Combined Hyperlipidemia (FCHL) patients, using the DNA microarrays technique, to identify regulatory networks of genes involved in disease. I have obtained a list of genes, whose expression is increased or decreased in FCHL patients and that changes in response to the statins, of which some were subject to validation by RT-qPCR.A main focus of my work has been to detailed analysis of the genes whose expression was altered through: Gene Ontology analysis, Network analysis, Motif analysis.
Gene Ontology analysis showed highly significant enrichment of a genes family involved in energy metabolism. Network analysis shows that the disease more related with our genes dataset is cardiac arteriopathy. Motif analysis shows some hypothetical motifs of regulation that we submitted to in vitro and in vitro experiments to verify their ability to act as regulators of gene expression. Experiments show that at least one of the motifs considered, its ability to act as gene expression regulator. Taken together, our data suggest that the down-regulation of two main gene networks, respectively in Energy production and inflammation, may be an important feature of the FCHL syndrome.